Short QT syndrome
Gene: KCNE5
KCNE5 (potassium voltage-gated channel subfamily E regulatory subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000176076
EnsemblGeneIds (GRCh37): ENSG00000176076
OMIM: 300328, Gene2Phenotype
KCNE5 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000176076
EnsemblGeneIds (GRCh37): ENSG00000176076
OMIM: 300328, Gene2Phenotype
KCNE5 is in 3 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment on publications: PMID 29350269: Report of a de novo variant in case of sudden cardiac death (female age 5), with atrial fibrillation and Brugada syndrome. PMID 30289750: "Kcne5 knockout ( Kcne5-/0) mice have ventricular premature beats, increased susceptibility to induction of polymorphic ventricular tachycardia (60 vs. 24% in Kcne5+/0 mice), and 10% shorter ventricular refractory period. The findings represent the first reported native role for Kcne5 and the first demonstrated Kcne regulation of KV2.1 in mouse heart. Increased KV current is a manifestation of KCNE5 disruption that is most likely common to both mouse and human hearts, providing a plausible mechanistic basis for human KCNE5-linked."Created: 15 Nov 2018, 12:43 p.m.
Not associated with Short QT phenotype in OMIM or in Gen2Phen, listed on the Brugada syndrome panel (Version 1.7).Created: 15 Nov 2018, 12:10 p.m.
Details
- Sources
-
- Brugada syndrome (Version 1.7)
- Phenotypes
-
- atrial fibrillation
- Brugada syndrome
- OMIM
- 300328
- Clinvar variants
- Variants in KCNE5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
20 Nov 2018, Gel status: 1
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)Sarah Leigh: Not associated with Short QT p
15 Nov 2018, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: KCNE5 were changed from to atrial fibrillation; Brugada syndrome
15 Nov 2018, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: KCNE5 were set to
15 Nov 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance
Sarah Leigh (Genomics England Curator)gene: KCNE5 was added gene: KCNE5 was added to Short QT syndrome. Sources: Brugada syndrome (Version 1.7) Mode of inheritance for gene: KCNE5 was set to